Incidental Mutation 'IGL01752:Ssu2'
ID |
153395 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ssu2
|
Ensembl Gene |
ENSMUSG00000034387 |
Gene Name |
ssu-2 homolog |
Synonyms |
D630042P16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
IGL01752
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
112336285-112364984 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 112352553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 279
(K279N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060847]
|
AlphaFold |
Q8C3L1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060847
AA Change: K279N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052328 Gene: ENSMUSG00000034387 AA Change: K279N
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
177 |
194 |
6.13e-5 |
PROSPERO |
internal_repeat_1
|
188 |
205 |
6.13e-5 |
PROSPERO |
low complexity region
|
214 |
234 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123254
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143134
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele exhibit abnormal tooth morphology, narrowed pulp cavity, increased dentin thickness, abnormal tooth attrition and collagenous attachment to the gum. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,747,318 (GRCm39) |
|
probably null |
Het |
Cdh4 |
A |
T |
2: 179,532,677 (GRCm39) |
N713I |
probably damaging |
Het |
Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
Ddx21 |
A |
G |
10: 62,423,286 (GRCm39) |
S639P |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,902,512 (GRCm39) |
|
probably benign |
Het |
Fan1 |
G |
A |
7: 64,022,542 (GRCm39) |
T237M |
probably benign |
Het |
Fbn2 |
T |
A |
18: 58,209,049 (GRCm39) |
|
probably null |
Het |
Fhad1 |
T |
C |
4: 141,700,210 (GRCm39) |
K347E |
possibly damaging |
Het |
Gucy2c |
C |
A |
6: 136,747,106 (GRCm39) |
A118S |
probably benign |
Het |
Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
Lox |
A |
G |
18: 52,653,926 (GRCm39) |
V390A |
possibly damaging |
Het |
Lyn |
A |
T |
4: 3,743,286 (GRCm39) |
M69L |
probably benign |
Het |
Mrgprb5 |
A |
G |
7: 47,818,415 (GRCm39) |
F107L |
probably benign |
Het |
Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Pcnx3 |
T |
A |
19: 5,715,365 (GRCm39) |
K1962* |
probably null |
Het |
Pde3a |
T |
C |
6: 141,433,339 (GRCm39) |
|
probably benign |
Het |
Phf10 |
A |
G |
17: 15,175,212 (GRCm39) |
|
probably benign |
Het |
Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
Slc4a11 |
T |
G |
2: 130,530,065 (GRCm39) |
T238P |
probably damaging |
Het |
Tead3 |
A |
T |
17: 28,552,568 (GRCm39) |
I275N |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,575,137 (GRCm39) |
E25252G |
probably damaging |
Het |
Twsg1 |
T |
C |
17: 66,236,779 (GRCm39) |
T84A |
probably benign |
Het |
Ugt3a1 |
A |
T |
15: 9,306,232 (GRCm39) |
K127M |
probably damaging |
Het |
Unc13c |
A |
T |
9: 73,839,093 (GRCm39) |
M586K |
probably benign |
Het |
Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,855,510 (GRCm39) |
I2525N |
probably damaging |
Het |
Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
probably benign |
Het |
Zfp52 |
T |
G |
17: 21,780,412 (GRCm39) |
C87G |
probably benign |
Het |
|
Other mutations in Ssu2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01631:Ssu2
|
APN |
6 |
112,351,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02820:Ssu2
|
APN |
6 |
112,359,353 (GRCm39) |
missense |
probably benign |
0.13 |
R0047:Ssu2
|
UTSW |
6 |
112,351,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R0047:Ssu2
|
UTSW |
6 |
112,351,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R0551:Ssu2
|
UTSW |
6 |
112,357,515 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0931:Ssu2
|
UTSW |
6 |
112,361,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R1350:Ssu2
|
UTSW |
6 |
112,351,807 (GRCm39) |
nonsense |
probably null |
|
R1512:Ssu2
|
UTSW |
6 |
112,364,959 (GRCm39) |
start codon destroyed |
probably null |
0.91 |
R1908:Ssu2
|
UTSW |
6 |
112,361,388 (GRCm39) |
missense |
probably benign |
0.00 |
R2013:Ssu2
|
UTSW |
6 |
112,360,902 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2915:Ssu2
|
UTSW |
6 |
112,354,566 (GRCm39) |
nonsense |
probably null |
|
R4526:Ssu2
|
UTSW |
6 |
112,359,383 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4782:Ssu2
|
UTSW |
6 |
112,353,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R5099:Ssu2
|
UTSW |
6 |
112,336,585 (GRCm39) |
missense |
probably benign |
0.34 |
R5396:Ssu2
|
UTSW |
6 |
112,357,957 (GRCm39) |
missense |
probably damaging |
0.99 |
R6223:Ssu2
|
UTSW |
6 |
112,353,409 (GRCm39) |
nonsense |
probably null |
|
R6241:Ssu2
|
UTSW |
6 |
112,351,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R6476:Ssu2
|
UTSW |
6 |
112,351,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R8099:Ssu2
|
UTSW |
6 |
112,353,438 (GRCm39) |
missense |
probably benign |
0.34 |
R8440:Ssu2
|
UTSW |
6 |
112,364,950 (GRCm39) |
missense |
probably benign |
0.01 |
R8712:Ssu2
|
UTSW |
6 |
112,361,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R8750:Ssu2
|
UTSW |
6 |
112,359,312 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8872:Ssu2
|
UTSW |
6 |
112,357,956 (GRCm39) |
missense |
probably damaging |
0.99 |
R8972:Ssu2
|
UTSW |
6 |
112,360,898 (GRCm39) |
missense |
probably benign |
|
R9367:Ssu2
|
UTSW |
6 |
112,357,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |